title: Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region.
abstract: The molecular characterization of two patients with features of Beckwith-Wiedemann syndrome (BWS) and chromosome abnormalities is consistent with the association of this phenotype with a duplication of a portion of chromosome 11. Quantitative Southern blot analysis of DNA from patient A defines a large inherited duplicated segment of chromosome 11. For patient B, a de novo duplication of unknown origin has been shown to contain a segment of 11p15. This chromosome segment includes the genes for insulin-like growth factor 2, beta-hemoglobin, calcitonin A (CALCA), and parathyroid hormone (PTH). However, the myogenic differentiation factor, MYOD1, is not included in the duplicated segment. This demonstrates that MYOD1 is proximal to CALCA and PTH and excludes MYOD1 as the BWS gene. These data place the BWS gene distal to MYOD1 on 11p15.
authors.affiliation: Department of Genetics and Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Weksberg
authors.forename: M
authors.initials: M
authors.lastname: Glaves
authors.forename: I
authors.initials: I
authors.lastname: Teshima
authors.forename: M
authors.initials: M
authors.lastname: Waziri
authors.forename: S
authors.initials: S
authors.lastname: Patil
authors.forename: B R
authors.initials: BR
authors.lastname: Williams
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D015139:Blotting, Southern; D002116:Calcitonin / Q000235:genetics; D002460:Cell Line; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005796:Genes; D006454:Hemoglobins / Q000235:genetics; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D017570:MyoD Protein; D009687:Nuclear Proteins / Q000235:genetics*; D010281:Parathyroid Hormone / Q000235:genetics; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D009124:Muscle Proteins; D017570:MyoD Protein; C057363:MyoD1 myogenic differentiation protein; D009687:Nuclear Proteins; D010281:Parathyroid Hormone; D010750:Phosphoproteins; D007335:Insulin-Like Growth Factor II; D002116:Calcitonin